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Mutations in the KCNQ2 and KCNQ3 genes encoding for Kv 7.2 (KCNQ2; Q2) and Kv 7.3 (KCNQ3; Q3) voltage-dependent K(+) channel subunits, respectively, cause neonatal epilepsies with wide phenotypic heterogeneity. In addition to benign familial neonatal epilepsy (BFNE), KCNQ2 mutations have been recently found in families with one or more family members with a(More)
We report on two sibs with an elongated face with reduced expression, microcephaly, strabismus, wide philtrum, mild joint laxity, thumb sign, bilateral foot drop, and fixed pes cavus, absent tendinous reflexes, an unsteady gait, quick fatigue, slightly diminished limb muscle strength more pronounced distally, abnormalities of cranial nerves III, IV, VII,(More)
BACKGROUND Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development. Several genes have been associated with EOEE and a molecular diagnosis workup is challenging since similar phenotypes are associated with mutations in different(More)
PURPOSE SEEG in children has a low morbidity and leads to a good surgical outcome, in particular in younger patients. We analysed, in detail, the SEEG data of patients that were subsequently cured by surgery. METHODS We selected the 48 children explored between 2009 and 2013 in our centre and surgically cured after SEEG-based resections with at least(More)
BACKGROUND Type I congenital disorders of glycosylation (CDG-I) are mostly complex multisystemic diseases associated with hypoglycosylated serum glycoproteins. A subgroup harbour mutations in genes necessary for the biosynthesis of the dolichol-linked oligosaccharide (DLO) precursor that is essential for protein N-glycosylation. Here, our objective was to(More)
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